ArticleJournal of movement disorders2021
Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?
Article in Journal of movement disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Review
- Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.Epilepsia open · 2026Review
- Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report.Clinical case reports · 2025Article
- Two cases of type I sialidosis and a literature review.Orphanet journal of rare diseases · 2024Review
- Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.Annals of clinical and translational neurology · 2024Article
- Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.Orphanet journal of rare diseases · 2024Article
- Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study.Orphanet journal of rare diseases · 2024Article
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Authors and funding
8 authors.
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Abstract
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.
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